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Variant (rsID / SNP)

rs121912493

LMNA

rs121912493 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to LMNA. Location: chromosome 1, position 156,106,165. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

LMNAConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
1:156106165
Cytoband
1q22
HGVS
NM_170707.4(LMNA):c.1318G>A (p.Val440Met)
Allele change
Missense_V440M

Associated conditions / phenotypes

Mandibuloacral dysplasia with type A lipodystrophy, atypical|Charcot-Marie-Tooth disease type 2|Charcot-Marie-Tooth disease|Cardiomyopathy

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.